Results 61 to 70 of about 9,837,393 (260)

An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry

open access: yes, 2022
Human facial morphology is a combination of many complex traits and is determined by a large number of genes and enhancers. Here, we report a Copy Number Variation (CNV) study of enhancer hs1431 in populations of Central European and South Siberian ...
Miroslava V. Derenko   +3 more
core   +1 more source

Bayesian Disease Classification Using Copy Number Data

open access: yesCancer Informatics, 2014
DNA copy number variations (CNVs) have been shown to be associated with cancer development and progression. The detection of these CNVs has the potential to impact the basic knowledge and treatment of many types of cancers, and can play a role in the ...
Subharup Guha   +2 more
doaj   +2 more sources

An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes

open access: yesFEBS Letters, EarlyView.
GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg   +14 more
wiley   +1 more source

Bayesian nonparametric hidden Markov models with application to the analysis of copy-number-variation in mammalian genomes [PDF]

open access: yes, 2009
We consider the development of Bayesian Nonparametric methods for product partition models such as Hidden Markov Models and change point models.
Yau, C.   +3 more
core  

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

open access: yesFEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang   +2 more
wiley   +1 more source

The role of genomic Copy Number Variation (CNV) in osteoporosis [PDF]

open access: yes, 2012
Copy number variation (CNV) is a relatively novel source of genetic variation, involving the duplication or deletion of segments of genomic DNA (gDNA) sequence, thereby changing the original number of DNA copies.
Connolly, Kate
core  

Liver organoids: modelling complexity in homeostasis and disease

open access: yesFEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Interpretation of genomic copy number variants using DECIPHER

open access: yes, 2012
Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression.
Bevan, P.   +4 more
core   +1 more source

Copy number variation in familial Parkinson disease.

open access: yesPLoS ONE, 2011
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single ...
Nathan Pankratz   +13 more
doaj   +1 more source

Epigenetic reprogramming of lineage switching in cancer

open access: yesFEBS Letters, EarlyView.
Cancer cells rarely commit to a single identity. Epigenetic mechanisms and tumor microenvironment cues push epithelial cells toward flexible, hybrid states that can shift into mesenchymal, neuroendocrine, or stem‐like fates, driving metastasis, drug resistance, and tumor heterogeneity. Targeting the epigenetic regulators behind these transitions, using
Ezgi Boyvatlı   +4 more
wiley   +1 more source

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